complement component 8, alpha polypeptide (C8A) - coding DNA reference sequence

(used for mutation description)

(last modified April 30, 2014)


This file was created to facilitate the description of sequence variants in the C8A gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000001.10, covering C8A transcript NM_000562.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                   .                g.1012
                                                 tgtgtatctggg       c.-121

 .         .         .         .         .         .                g.1072
 tgagtttccaacatcagatagatcttacaggtcccagcctgtagacatcttttactccaa       c.-61

 .         .         .         .         .         .                g.1132
 tttcctgaatagatagctttattccttcaaggtaatatagtgcggtggcttctggctgag       c.-1

          .         .         .         .         .         .       g.1192
 ATGTTTGCTGTTGTTTTCTTCATCTTGTCTTTGATGACTTGTCAGCCTGGGGTAACTGCA       c.60
 M  F  A  V  V  F  F  I  L  S  L  M  T  C  Q  P  G  V  T  A         p.20

          .        | 02.         .         .         .         .    g.13882
 CAGGAGAAGGTGAACCA | GAGAGTAAGACGGGCAGCTACACCCGCAGCAGTTACCTGCCAG    c.120
 Q  E  K  V  N  Q  |  R  V  R  R  A  A  T  P  A  A  V  T  C  Q      p.40

          .         .         .         .         .  | 03      .    g.21188
 CTGAGCAACTGGTCAGAGTGGACAGATTGCTTTCCGTGCCAGGACAAAAAG | TACCGACAC    c.180
 L  S  N  W  S  E  W  T  D  C  F  P  C  Q  D  K  K   | Y  R  H      p.60

          .         .         .         .         .         .       g.21248
 CGGAGCCTCTTGCAGCCAAACAAGTTTGGGGGAACCATCTGCAGTGGTGACATCTGGGAT       c.240
 R  S  L  L  Q  P  N  K  F  G  G  T  I  C  S  G  D  I  W  D         p.80

          .         .         .         .         .         .       g.21308
 CAAGCCAGCTGCTCCAGTTCTACAACTTGTGTAAGGCAAGCACAGTGTGGACAGGATTTC       c.300
 Q  A  S  C  S  S  S  T  T  C  V  R  Q  A  Q  C  G  Q  D  F         p.100

          .       | 04 .         .         .         .         .    g.22336
 CAGTGTAAGGAGACAG | GTCGCTGCCTGAAACGCCACCTTGTGTGTAATGGAGACCAGGAC    c.360
 Q  C  K  E  T  G |   R  C  L  K  R  H  L  V  C  N  G  D  Q  D      p.120

          .         .         .         .         .         .       g.22396
 TGCCTTGATGGCTCTGATGAGGACGACTGTGAAGATGTCAGGGCCATTGACGAAGACTGC       c.420
 C  L  D  G  S  D  E  D  D  C  E  D  V  R  A  I  D  E  D  C         p.140

          .         .         .         .     | 05   .         .    g.27691
 AGCCAGTATGAACCAATTCCAGGATCACAGAAGGCAGCCTTGGG | GTACAATATCCTGACC    c.480
 S  Q  Y  E  P  I  P  G  S  Q  K  A  A  L  G  |  Y  N  I  L  T      p.160

          .         .         .         .         .         .       g.27751
 CAGGAAGATGCTCAGAGTGTGTACGATGCCAGTTATTATGGGGGCCAGTGTGAGACGGTA       c.540
 Q  E  D  A  Q  S  V  Y  D  A  S  Y  Y  G  G  Q  C  E  T  V         p.180

          .         .         .         .         .         .       g.27811
 TACAATGGGGAATGGAGGGAGCTTCGATATGACTCCACCTGTGAACGTCTCTACTATGGA       c.600
 Y  N  G  E  W  R  E  L  R  Y  D  S  T  C  E  R  L  Y  Y  G         p.200

          .         .         .         .         .     | 06   .    g.29717
 GATGATGAGAAATACTTTCGGAAACCCTACAACTTTCTGAAGTACCACTTTGAA | GCCCTG    c.660
 D  D  E  K  Y  F  R  K  P  Y  N  F  L  K  Y  H  F  E   | A  L      p.220

          .         .         .         .         .         .       g.29777
 GCAGATACTGGAATCTCCTCAGAGTTTTATGATAATGCAAATGACCTTCTTTCCAAAGTT       c.720
 A  D  T  G  I  S  S  E  F  Y  D  N  A  N  D  L  L  S  K  V         p.240

          .         .         .         .         .         .       g.29837
 AAAAAAGACAAGTCTGACTCATTTGGAGTGACCATCGGCATAGGCCCAGCCGGCAGCCCT       c.780
 K  K  D  K  S  D  S  F  G  V  T  I  G  I  G  P  A  G  S  P         p.260

          .         .         .         .         .         .       g.29897
 TTATTGGTGGGTGTAGGTGTATCCCACTCACAAGACACTTCATTCTTGAACGAATTAAAC       c.840
 L  L  V  G  V  G  V  S  H  S  Q  D  T  S  F  L  N  E  L  N         p.280

          .      | 07  .         .         .         .         .    g.32202
 AAGTATAATGAGAAG | AAATTCATTTTCACAAGAATCTTCACAAAGGTGCAGACTGCACAT    c.900
 K  Y  N  E  K   | K  F  I  F  T  R  I  F  T  K  V  Q  T  A  H      p.300

          .         .         .         .         .         .       g.32262
 TTTAAGATGAGGAAGGATGACATTATGCTGGATGAAGGAATGCTGCAGTCATTAATGGAG       c.960
 F  K  M  R  K  D  D  I  M  L  D  E  G  M  L  Q  S  L  M  E         p.320

          .         .         .         .         .         .       g.32322
 CTTCCAGATCAGTACAATTATGGCATGTATGCCAAGTTCATCAATGACTATGGCACCCAT       c.1020
 L  P  D  Q  Y  N  Y  G  M  Y  A  K  F  I  N  D  Y  G  T  H         p.340

          .         .         .         .         .         .       g.32382
 TACATCACATCTGGATCCATGGGTGGCATTTATGAATATATCCTGGTGATTGACAAAGCA       c.1080
 Y  I  T  S  G  S  M  G  G  I  Y  E  Y  I  L  V  I  D  K  A         p.360

          .       | 08 .         .         .         .         .    g.52941
 AAAATGGAATCCCTTG | GTATTACCAGCAGAGATATCACGACATGTTTTGGAGGCTCCTTG    c.1140
 K  M  E  S  L  G |   I  T  S  R  D  I  T  T  C  F  G  G  S  L      p.380

          .         .         .         .         .         .       g.53001
 GGCATTCAATATGAAGACAAAATAAATGTTGGTGGAGGTTTATCAGGAGACCATTGTAAA       c.1200
 G  I  Q  Y  E  D  K  I  N  V  G  G  G  L  S  G  D  H  C  K         p.400

          .         .   | 09     .         .         .         .    g.54224
 AAATTTGGAGGTGGCAAAACTG | AAAGGGCCAGGAAGGCCATGGCTGTGGAAGACATTATT    c.1260
 K  F  G  G  G  K  T  E |   R  A  R  K  A  M  A  V  E  D  I  I      p.420

          .         .         .         .         .         .       g.54284
 TCTCGGGTGCGAGGTGGCAGTTCTGGCTGGAGCGGTGGCTTGGCACAGAACAGGAGCACC       c.1320
 S  R  V  R  G  G  S  S  G  W  S  G  G  L  A  Q  N  R  S  T         p.440

          .         .         .         .         .         .       g.54344
 ATTACATACCGTTCCTGGGGGAGGTCATTAAAGTATAATCCTGTTGTTATCGATTTTGAG       c.1380
 I  T  Y  R  S  W  G  R  S  L  K  Y  N  P  V  V  I  D  F  E         p.460

  | 10       .         .         .         .         .         .    g.58693
  | ATGCAGCCTATCCACGAGGTGCTGCGGCACACAAGCCTGGGGCCTCTGGAGGCCAAGCGC    c.1440
  | M  Q  P  I  H  E  V  L  R  H  T  S  L  G  P  L  E  A  K  R      p.480

          .         .         .         .         .         .       g.58753
 CAGAACCTGCGCCGCGCCTTGGACCAGTATCTGATGGAATTCAATGCCTGCCGATGTGGG       c.1500
 Q  N  L  R  R  A  L  D  Q  Y  L  M  E  F  N  A  C  R  C  G         p.500

          .         .         .         .         .         .       g.58813
 CCTTGCTTCAACAATGGGGTGCCCATCCTCGAGGGCACCAGCTGCAGGTGCCAGTGCCGC       c.1560
 P  C  F  N  N  G  V  P  I  L  E  G  T  S  C  R  C  Q  C  R         p.520

          .         .         .         .    | 11    .         .    g.63812
 CTGGGTAGCTTGGGTGCTGCCTGTGAGCAAACACAGACAGAAG | GAGCCAAAGCAGATGGG    c.1620
 L  G  S  L  G  A  A  C  E  Q  T  Q  T  E  G |   A  K  A  D  G      p.540

          .         .         .         .         .         .       g.63872
 AGCTGGAGTTGCTGGAGCTCCTGGTCTGTATGCAGAGCAGGCATCCAGGAAAGGAGAAGA       c.1680
 S  W  S  C  W  S  S  W  S  V  C  R  A  G  I  Q  E  R  R  R         p.560

          .         .         .         .         .         .       g.63932
 GAGTGTGACAATCCAGCACCTCAGAATGGAGGGGCCTCGTGTCCAGGGCGGAAAGTACAG       c.1740
 E  C  D  N  P  A  P  Q  N  G  G  A  S  C  P  G  R  K  V  Q         p.580

          .                                                         g.63947
 ACGCAGGCTTGCTGA                                                    c.1755
 T  Q  A  C  X                                                      p.584

          .         .         .         .         .         .       g.64007
 gggcctctggacacaggctggaccagatgctgtggatgtcgacccctgcactgactattg       c.*60

          .         .         .         .         .         .       g.64067
 gataaagacttctttcaactaagagaagatgcaaatcagcacacttttttctttgttctg       c.*120

          .         .         .         .         .         .       g.64127
 ccagcttccaggcctaagactaggttttgctgtctacagccaactattctattagttaca       c.*180

          .         .         .         .         .         .       g.64187
 aaactcaatcattttattcagcaactggatgttgactgttaactagaagctctgtcctac       c.*240

          .         .         .         .         .         .       g.64247
 ttacagcactttggatcatcaaaaaaataaagtaaaatagaaaactgagaaaactcaatc       c.*300

          .         .         .         .         .         .       g.64307
 catgaccagggagaacttacaggatgttagagacaaaacaagcagacacctgaaacaatc       c.*360

          .         .         .         .         .         .       g.64367
 aacgcccaataaaacaaagtaggatgaaaattctcttagttctttgataacaatttgttc       c.*420

          .         .         .         .         .         .       g.64427
 actcatagaaacattattaattggtagggtaagcagacactctgaaacaatgagaaaaat       c.*480

          .         .                                               g.64452
 actaaaaattgacttgagttatttc                                          c.*505

 (downstream sequence)
Legend:
Nucleotide numbering (following the rules of the HGVS for a 'Coding DNA Reference Sequence') is indicated at the right of the sequence, counting the A of the ATG translation initiating Methionine as 1. Every 10th nucleotide is indicated by a "." above the sequence. The Complement component 8, alpha polypeptide protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th amino acid is shown in bold. The position of introns is indicated by a vertical line, splitting the two exons. The start of the first exon (transcription initiation site) is indicated by a '\', the end of the last exon (poly-A addition site) by a '/'. The exon number is indicated above the first nucleotide(s) of the exon. To aid the description of frame shift mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.

Powered by LOVD v.2.0 Build 34
©2004-2014 Leiden University Medical Center